Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients-Reference-Cited by-同舟云学术

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

Published:2019-04-15 Issue:8 Volume:23 Page:1022-1030
ISSN:1342-1751
Container-title:Clinical and Experimental Nephrology
language:en
Short-container-title:Clin Exp Nephrol

Author:

Mochizuki Toshio^ORCID,Teraoka Atsuko,Akagawa Hiroyuki,Makabe Shiho,Akihisa Taro,Sato Masayo,Kataoka Hiroshi,Mitobe Michihiro,Furukawa Toru,Tsuchiya Ken,Nitta Kosaku

Funder

Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Nephrology,Physiology

Link

http://link.springer.com/content/pdf/10.1007/s10157-019-01736-3.pdf

Reference26 articles.

1. Mochizuki T, Tsuchiya K, Nitta K. Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and potential therapies. Clin Exp Nephrol. 2013;17:317–26.

2. Cornec-Le Gall E, Audrezet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Ferec C, Le Meur Y. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol JASN. 2013;24:1006–13.

3. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS, Investigators TT. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012;367:2407–18.

4. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Dandurand A, Ouyang J, Czerwiec FS, Blais JD, Investigators TT. Multicenter, open-label, extension trial to evaluate the long-term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial. Nephrol Dialysis Transplant. 2017. https://doi.org/10.1093/ndt/gfx043 .

5. Phakdeekitcharoen B, Watnick TJ, Germino GG. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol JASN. 2001;12:955–63.

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